Dr Derralynn Hughes

Job title

Senior lecturer in haematology and consultant haematologist

Qualifications

MA DPhil FRCP FRCPath

GMC Number

4437437

Contact details

Phone number: 020 7472 6588

Email address: derralynnhughes@nhs.net

PA/secretary email address: rmgvdah@ucl.ac.uk

Related services

Lysosomal storage disorder - Gaucher's disease

Biography

Dr Derralynn Hughes is a senior lecturer in haematology at University College London, UK, and has clinical responsibilities in the area of haematology and lysosomal storage disorders at the Royal Free London NHS Foundation Trust. She directs the research programme in the lysosomal storage disorders unit research laboratory and is principle investigator of a number of clinical trials, registries and observational studies. Dr Hughes studied medicine at Oxford University in the UK, and joined the research group in the Sir William Dunn School of Pathology as an MRC training fellow, writing a doctoral thesis in the area of macrophage biology. Her interest in the role of the macrophage in inflammatory and developmental processes has endured and now, she has focused her laboratory research interests towards the role of inflammatory cell interactions in the pathophysiology of the lysosomal storage disorders Gaucher and Fabry disease. Major laboratory projects are currently aimed at understanding the pathophysiology underlying Gaucher-related bone pathology, increased incidence of malignancy in Gaucher disease and phenotypic variation in Anderson-Fabry disease.

Dr Hughes has a clinical research commitment and is actively involved in a number of trials examining the efficacy of enzyme replacement therapy and other new therapies in the treatment Gaucher, Fabry, Pompe and MPS disorders. A particular interest relates to the clinical and biological effects of Anderson-Fabry disease in women. Recent publications included the effects of enzyme replacement therapy on the cardiomyopathy of Fabry disease and  females with Fabry disease, the development of an age-adjusted  and prognostic scoring systems  for Anderson Fabry disease, the pathophysiology of bone complications in  Gaucher disease, recommendations for the management of haematological complications of Gaucher disease, and the effect of delayed diagnosis in myeloma.

Publications

  • D. A Hughes, P Elliott , J Shah2, J Zuckerman, , G Coghlan, J Brookes, and  A Mehta Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomized, double-blind, placebo-controlled clinical trial of agalsidase-alfa  In Press Heart (Epub 4 May 2007)
  • Barba-Romero MA, Deegan P, Giugliani R, Hughes D. Does geographical location influence the phenotype of Fabry disease in women in Europe? Clin Genet. 2010 Feb;77(2):131-40. PubMed PMID: 20096069
  • Hughes DA, Ramaswami U, Barba Romero MÁ, Deegan P; FOS Investigators. Age adjusting severity scores for Anderson-Fabry disease. Mol Genet Metab. 2010 Oct-Nov;101(2-3):219-27. Epub 2010 Jun 22. PubMed PMID: 20691627.
  • Hughes DA, Barba Romero MÁ, Hollak CE, Giugliani R, Deegan PB. Response of women with Fabry disease to enzyme replacement therapy: Comparison with men, using data from FOS-the Fabry Outcome Survey. Mol Genet Metab. 2011 Jul;103(3):207-14. Epub 2011 Mar 31. PubMed PMID: 21543245
  • Ebrahim HY, Baker RJ, Mehta AB, Hughes DA. Functional analysis of variant lysosomal acid-glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293T). J Inherit Metab Dis. 2012Mar;35(2):325-34. Epub 2011 Oct 5. PubMed PMID: 21972175.
  • Elliot P, Baker R, Pasquale F, Quarta G, Ebrahim H, Mehta AB, Hughes DA, Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry disease survey. on behalf of ACES study group. . Heart. 2011Dec;97(23):1957-60. Epub 2011 Sep 2. PubMed PMID: 21890869.
  • Hughes DA, Malmenäs M, Deegan PB, Elliott PM, Ginsberg L, Hajioff D, IoannidisAS, Orteu CH, Ramaswami U, West M, Pastores GM, Jenkinson C; on behalf of the FOSInvestigators. Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease. J Med Genet. 2012 Mar;49(3):212-220. Epub 2012 Feb 7.PubMed PMID: 22315436.
  • Thomas AS, Mehta AB, Hughes DA. Diagnosing Gaucher disease: an on-going need for increased awareness amongst haematologists. Blood Cells Mol Dis. 2013 Mar;50(3):212-7. doi: 10.1016/j.bcmd.2012.11.004. Epub 2012 Dec 6. PubMed PMID:23219328.
  • Hughes DA, Deegan PB, Milligan A, Wright N, Butler LH, Jacobs A, Mehta AB. A randomised, double-blind, placebo-controlled, crossover study to assess the efficacy and safety of three dosing schedules of agalsidase alfa enzyme replacement therapy for Fabry disease. Mol Genet Metab. 2013 Jul;109(3):269-75. doi: 10.1016/j.ymgme.2013.04.015. Epub 2013 Apr 28. PubMed PMID: 23702393.
  • Reed M, Baker RJ, Mehta AB, Hughes DA. Enhanced differentiation of osteoclasts from mononuclear precursors in patients with Gaucher disease. Blood Cells Mol Dis. 2013 May 23. doi:pii: S1079-9796(13)00086-7. 10.1016/j.bcmd.2013.04.006. [Epub ahead of print] PubMed PMID: 23707505.